Canonical Allele Identifier: CA399605225

Gene: MLX

Linked Data

• MyVariant Identifiers: chr17:g.40723593T>G (hg19) ; chr17:g.42571575T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571575T>G , CM000679.2:g.42571575T>G	GRCh38
NC_000017.10:g.40723593T>G , CM000679.1:g.40723593T>G	GRCh37
NC_000017.9:g.37977119T>G	NCBI36
NG_029442.1:g.9516T>G
NG_031960.1:g.11257A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.707T>G MANE Select	ENSP00000416627.1:p.Leu236Arg
ENST00000246912.8:c.869T>G	ENSP00000246912.3:p.Leu290Arg
ENST00000346833.8:c.617T>G	ENSP00000320913.3:p.Leu206Arg
ENST00000435881.6:c.707T>G	ENSP00000416627.1:p.Leu236Arg
ENST00000585403.5:n.914T>G
ENST00000588320.1:n.1183T>G
ENST00000590050.5:n.873T>G
NM_170607.2:c.869T>G	NP_733752.1:p.Leu290Arg
NM_198204.1:c.707T>G	NP_937847.1:p.Leu236Arg
NM_198205.1:c.617T>G	NP_937848.1:p.Leu206Arg
NM_198204.2:c.707T>G MANE Select	NP_937847.1:p.Leu236Arg
NM_170607.3:c.869T>G	NP_733752.1:p.Leu290Arg
NM_198205.2:c.617T>G	NP_937848.1:p.Leu206Arg